P5S (p.Pro5Ser) variant of AQP4 (Aquaporin-4)
P5S (p.Pro5Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- TOPMed rs1474508608
- gnomAD rs1474508608
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.18
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available